GCLC wt Allele

Preferred Label : GCLC wt Allele;

NCIt synonyms : GLCL; Glutamate-Cysteine Ligase, Catalytic Subunit wt Allele; GLCLC; GCS; GCL;

NCIt definition : Human GCLC wild-type allele is located within 6p12 and is approximately 48 kb in length. This allele, which encodes glutamate-cysteine ligase catalytic subunit protein, is involved in the biosynthesis of glutathione. Heritable defects in the GCLC gene are associated with hemolytic anemia (due to deficiency of gamma-glutamylcysteine synthetase) and susceptibility to myocardial infarction.;

NCIt note : Gene_Has_Function: Glutathione Biosynthesis;

GenBank Accession Number : NM_001498;

Details

Origin ID

C52034;

UMLS CUI

C1704697;

OMIM relation
- Glutamate-cysteine ligase, catalytic subunit [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Hemolytic Anemia [NCIt concept]
- Myocardial Infarction [NCIt concept]
gene_has_physical_location
- 6: 53517790-53470098 [NCIt concept]
gene_in_chromosomal_location
- 6p12 [NCIt concept]
gene_is_element_in_pathway
- Alanine, Aspartate and Glutamate Metabolism Pathway [NCIt concept]
- Glutathione Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Detoxification [NCIt concept]
- Peptide Metabolism [NCIt concept]

Keyword's position in hierarchy(ies) :

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